Disease: Chromosome 21- uniparental disomy of
- "Compensatory" uniparental disomy of chromosome 21 in two cases
- 21 TRISOMY/NORMAL MOSAICISM IN AN INTELLIGENT CHILD WITH SOME MONGOLOID CHARACTERS
- 21-trisomy/normal mosaicism in an intelligent child with some mongoloid characters
- A chromosome 21-derived minute marker in a mosaic trisomy 21 background: implications for risk assessments in marker chromosome cases
- A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability
- A MOSAIC MONGOL WITH NORMAL LEUCOCYTE CHROMOSOMES
- A paternity case with three genetic incompatibilities between father and child due to maternal uniparental disomy 21 and a mutation at the Y chromosome
- A somatic origin of homologous Robertsonian translocations and isochromosomes
- A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing
- Acquired uniparental isodisomies involving chromosome 12 in paediatric B-cell precursor acute lymphoblastic leukaemia: Associations with chromosome 21 gains and SH2B3 mutations
- Age-associated chromosome 21 loss in Down syndrome: possible relevance to mosaicism and Alzheimer disease
- An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy 18pter-->18q12.2
- Comment on "Maternal uniparental disomy 21 in association with low-level mosaic trisomy 21 at amniocentesis"
- Concurrent psu dic(21)(q22.3) and t(13;17)(q14.1;p12) in a mosaic Down's syndrome patient: review of thirty-one similar dicentrics
- De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier
- Demonstration of uniparental-isodisomy on chromosome 22q11.2 in a patient with childhood schizophrenia and facial dysmorphology by whole-genome analysis
- Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue
- Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia
- Early embryonic failure associated with uniparental disomy for human chromosome 21
- Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders
- First patient with trisomy 21 accompanied by an additional der(4)(:p11 --> q11:) plus partial uniparental disomy 4p15-16
- FISH on sperm: spot-counting to stop counting? Not yet
- Genetic analysis of a case of mosaic trisomy 21 associated with autism spectrum disorder
- Genomic organization of the UBE3A/E6-AP gene and related pseudogenes
- High-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with positive NIPT for trisomy 21, prenatal progressive decrease of the trisomy 21 cell line, acute fatty liver of pregnancy and intrauterine fetal death in late gestation
- Integration of genomic and gene expression data of childhood ALL without known aberrations identifies subgroups with specific genetic hallmarks
- iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes
- Long-term bumetanide administration altered behavioral pattern in mosaic Down's Syndrome: A case report
- Low incidence of UPD in spontaneous abortions beyond the 5th gestational week
- Low-level mosaic trisomy 21 at amniocentesis can be associated with a favorable pediatric outcome: The follow-up of a child at age 6 years and 4 months
- Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with a negative NIPT result, cytogenetic discrepancy in various tissues, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome
- Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome
- Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome
- Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14
- Maternal uniparental disomy of chromosome 21 in a normal child
- Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
- Monozygotic twins discordant for trisomy 21: Discussion of etiological events involved
- Mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line
- Mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy 21 and postnatal decrease of the trisomy 21 cell line
- MOSAIC TRISOMY 21/NORMAL IN A FEMALE INFANT WITH VARIOUS MALFORMATIONS AND SIGNS OF MONGOLISM
- Normal phenotype with paternal uniparental isodisomy for chromosome 21
- Pattern of chromosome involvement in childhood hyperdiploid pre-B-cell acute lymhoblastic leukemia cases from India
- Perinatal cytogenetic discrepancy in a fetus with low-level mosaicism for trisomy 21 and a favorable outcome
- Postnatal Identification of Trisomy 21: An Overview of 7,133 Postnatal Trisomy 21 Cases Identified in a Diagnostic Reference Laboratory in China
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation
- Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome
- Prenatal diagnosis of maternal uniparental disomy 21 in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome
- Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy
- Prevalence and Phenotypic Impact of Robertsonian Translocations
- QF-PCR-based prenatal detection of aneuploidy in a southeast Asian population
- Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)
- Recurrent trisomy 21 and uniparental disomy 21 in a family
- Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line
- Role of Trisomy 21 Mosaicism in Sporadic and Familial Alzheimer's Disease
- Secular decrease in chromosomal mosaicism in cultured and uncultured peripheral blood cells of six patients with mosaic Down syndrome
- Similar but different: identical pathology with differing outcome in 'Not-so-identical' twins
- Sperm and embryo analysis in a carrier of supernumerary inv dup(15) marker chromosome
- Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion
- The association between male infertility and sperm disomy: evidence for variation in disomy levels among individuals and a correlation between particular semen parameters and disomy of specific chromosome pairs
- Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21
- Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome
- Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis
- Unbalanced and balanced heterologous acrocentric rearrangements involving chromosome 21 at amniocentesis
- Uniparental disomy of chromosome 21: A statistical approach and application in paternity tests
- Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21